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Permanent neonatal diabetes due to paternal germline mosaicism for an activating mutation of the KCNJ11 Gene encoding the Kir6.2 subunit of the beta-cell potassium adenosine triphosphate channel.
Gloyn AL, Cummings EA, Edghill EL, Harries LW, Scott R, Costa T, Temple IK, Hattersley AT, Ellard S. Gloyn AL, et al. Among authors: edghill el. J Clin Endocrinol Metab. 2004 Aug;89(8):3932-5. doi: 10.1210/jc.2004-0568. J Clin Endocrinol Metab. 2004. PMID: 15292329
Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes.
Gloyn AL, Pearson ER, Antcliff JF, Proks P, Bruining GJ, Slingerland AS, Howard N, Srinivasan S, Silva JM, Molnes J, Edghill EL, Frayling TM, Temple IK, Mackay D, Shield JP, Sumnik Z, van Rhijn A, Wales JK, Clark P, Gorman S, Aisenberg J, Ellard S, Njølstad PR, Ashcroft FM, Hattersley AT. Gloyn AL, et al. Among authors: edghill el. N Engl J Med. 2004 Apr 29;350(18):1838-49. doi: 10.1056/NEJMoa032922. N Engl J Med. 2004. PMID: 15115830 Free article.
Relapsing diabetes can result from moderately activating mutations in KCNJ11.
Gloyn AL, Reimann F, Girard C, Edghill EL, Proks P, Pearson ER, Temple IK, Mackay DJ, Shield JP, Freedenberg D, Noyes K, Ellard S, Ashcroft FM, Gribble FM, Hattersley AT. Gloyn AL, et al. Among authors: edghill el. Hum Mol Genet. 2005 Apr 1;14(7):925-34. doi: 10.1093/hmg/ddi086. Epub 2005 Feb 17. Hum Mol Genet. 2005. PMID: 15718250
Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effects.
Ellard S, Flanagan SE, Girard CA, Patch AM, Harries LW, Parrish A, Edghill EL, Mackay DJ, Proks P, Shimomura K, Haberland H, Carson DJ, Shield JP, Hattersley AT, Ashcroft FM. Ellard S, et al. Among authors: edghill el. Am J Hum Genet. 2007 Aug;81(2):375-82. doi: 10.1086/519174. Epub 2007 Jun 29. Am J Hum Genet. 2007. PMID: 17668386 Free PMC article.
Wolcott-Rallison syndrome is the most common genetic cause of permanent neonatal diabetes in consanguineous families.
Rubio-Cabezas O, Patch AM, Minton JA, Flanagan SE, Edghill EL, Hussain K, Balafrej A, Deeb A, Buchanan CR, Jefferson IG, Mutair A; Neonatal Diabetes International Collaborative Group; Hattersley AT, Ellard S. Rubio-Cabezas O, et al. Among authors: edghill el. J Clin Endocrinol Metab. 2009 Nov;94(11):4162-70. doi: 10.1210/jc.2009-1137. Epub 2009 Oct 16. J Clin Endocrinol Metab. 2009. PMID: 19837917 Free PMC article.
45 results